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Wiedemann-Rautenstrauch syndrome
Summary
- Synonym
-
- Neonatal progeroid syndrome
- PROGEROID SYNDROME, NEONATAL
- Definition
- A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22.
- Super Class
- autosomal recessive disease progeroid syndrome
External Links
- Disease Ontology
- DOID:0081333
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
